UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580550A= | CA2450683023 | COL4A5 | c.798A= (p.Arg266=) c.474A= (p.Arg158=) c.813A= (p.Arg271=) | |
| X | g.108580550A>C | CA517991840 | COL4A5 | c.798A>C (p.Arg266=) c.474A>C (p.Arg158=) c.813A>C (p.Arg271=) | |
| X | g.108580550A>G | CA517991842 | COL4A5 | c.798A>G (p.Arg266=) c.474A>G (p.Arg158=) c.813A>G (p.Arg271=) | |
| X | g.108580550A>T | CA517991841 | COL4A5 | c.798A>T (p.Arg266=) c.474A>T (p.Arg158=) c.813A>T (p.Arg271=) | |
| X | g.108580551G>A | CA413925644 | COL4A5 | c.799G>A (p.Gly267Arg) c.475G>A (p.Gly159Arg) c.814G>A (p.Gly272Arg) | ClinVar dbSNP |
| X | g.108580551G>C | CA413925646 | COL4A5 | c.799G>C (p.Gly267Arg) c.475G>C (p.Gly159Arg) c.814G>C (p.Gly272Arg) | ClinVar dbSNP |
| X | g.108580551G= | CA2450683024 | COL4A5 | c.799G= (p.Gly267=) c.475G= (p.Gly159=) c.814G= (p.Gly272=) | |
| X | g.108580551G>T | CA413925650 | COL4A5 | c.799G>T (p.Gly267Trp) c.475G>T (p.Gly159Trp) c.814G>T (p.Gly272Trp) | |
| X | g.108580553dup | CA891843913 | COL4A5 | c.801dup (p.Pro268AlafsTer17) c.477dup (p.Pro160AlafsTer17) c.816dup (p.Pro273AlafsTer17) | |
| X | g.108580552G>A | CA413925657 | COL4A5 | c.800G>A (p.Gly267Glu) c.476G>A (p.Gly159Glu) c.815G>A (p.Gly272Glu) | |
| X | g.108580552G>C | CA413925665 | COL4A5 | c.800G>C (p.Gly267Ala) c.476G>C (p.Gly159Ala) c.815G>C (p.Gly272Ala) | |
| X | g.108580552G= | CA2450683025 | COL4A5 | c.800G= (p.Gly267=) c.476G= (p.Gly159=) c.815G= (p.Gly272=) | |
| X | g.108580552G>T | CA413925659 | COL4A5 | c.800G>T (p.Gly267Val) c.476G>T (p.Gly159Val) c.815G>T (p.Gly272Val) | ClinVar dbSNP |
| X | g.108580553G>A | CA517991843 | COL4A5 | c.801G>A (p.Gly267=) c.477G>A (p.Gly159=) c.816G>A (p.Gly272=) | gnomAD v4 |
| X | g.108580553G>C | CA517991844 | COL4A5 | c.801G>C (p.Gly267=) c.477G>C (p.Gly159=) c.816G>C (p.Gly272=) | |
| X | g.108580553G>T | CA517991845 | COL4A5 | c.801G>T (p.Gly267=) c.477G>T (p.Gly159=) c.816G>T (p.Gly272=) | |
| X | g.108580554C>A | CA413925669 | COL4A5 | c.802C>A (p.Pro268Thr) c.478C>A (p.Pro160Thr) c.817C>A (p.Pro273Thr) | |
| X | g.108580554C>G | CA413925671 | COL4A5 | c.802C>G (p.Pro268Ala) c.478C>G (p.Pro160Ala) c.817C>G (p.Pro273Ala) | |
| X | g.108580554C>T | CA413925672 | COL4A5 | c.802C>T (p.Pro268Ser) c.478C>T (p.Pro160Ser) c.817C>T (p.Pro273Ser) | |
| X | g.108580555C>A | CA413925673 | COL4A5 | c.803C>A (p.Pro268His) c.479C>A (p.Pro160His) c.818C>A (p.Pro273His) | |
| X | g.108580555C>G | CA413925676 | COL4A5 | c.803C>G (p.Pro268Arg) c.479C>G (p.Pro160Arg) c.818C>G (p.Pro273Arg) | |
| X | g.108580555C>T | CA413925682 | COL4A5 | c.803C>T (p.Pro268Leu) c.479C>T (p.Pro160Leu) c.818C>T (p.Pro273Leu) | |
| X | g.108580556T>A | CA517991846 | COL4A5 | c.804T>A (p.Pro268=) c.480T>A (p.Pro160=) c.819T>A (p.Pro273=) | |
| X | g.108580556T>C | CA517991847 | COL4A5 | c.804T>C (p.Pro268=) c.480T>C (p.Pro160=) c.819T>C (p.Pro273=) | |
| X | g.108580556T>G | CA517991848 | COL4A5 | c.804T>G (p.Pro268=) c.480T>G (p.Pro160=) c.819T>G (p.Pro273=) | |
| X | g.108580557C>A | CA413925689 | COL4A5 | c.805C>A (p.Pro269Thr) c.481C>A (p.Pro161Thr) c.820C>A (p.Pro274Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108580557C= | CA2450683026 | COL4A5 | c.805C= (p.Pro269=) c.481C= (p.Pro161=) c.820C= (p.Pro274=) | |
| X | g.108580557C>G | CA413925693 | COL4A5 | c.805C>G (p.Pro269Ala) c.481C>G (p.Pro161Ala) c.820C>G (p.Pro274Ala) | gnomAD v4 |
| X | g.108580557C>T | CA413925698 | COL4A5 | c.805C>T (p.Pro269Ser) c.481C>T (p.Pro161Ser) c.820C>T (p.Pro274Ser) | |
| X | g.108580558C>A | CA413925710 | COL4A5 | c.806C>A (p.Pro269His) c.482C>A (p.Pro161His) c.821C>A (p.Pro274His) | |
| X | g.108580558C>G | CA413925709 | COL4A5 | c.806C>G (p.Pro269Arg) c.482C>G (p.Pro161Arg) c.821C>G (p.Pro274Arg) | |
| X | g.108580558C>T | CA413925705 | COL4A5 | c.806C>T (p.Pro269Leu) c.482C>T (p.Pro161Leu) c.821C>T (p.Pro274Leu) | |
| X | g.108580559T>A | CA517991851 | COL4A5 | c.807T>A (p.Pro269=) c.483T>A (p.Pro161=) c.822T>A (p.Pro274=) | |
| X | g.108580559T>C | CA517991850 | COL4A5 | c.807T>C (p.Pro269=) c.483T>C (p.Pro161=) c.822T>C (p.Pro274=) | |
| X | g.108580559T>G | CA517991849 | COL4A5 | c.807T>G (p.Pro269=) c.483T>G (p.Pro161=) c.822T>G (p.Pro274=) | |
| X | g.108580560G>A | CA413925713 | COL4A5 | c.808G>A (p.Gly270Arg) c.484G>A (p.Gly162Arg) c.823G>A (p.Gly275Arg) | ClinVar dbSNP |
| X | g.108580560G>C | CA413925717 | COL4A5 | c.808G>C (p.Gly270Arg) c.484G>C (p.Gly162Arg) c.823G>C (p.Gly275Arg) | |
| X | g.108580560G= | CA2450683027 | COL4A5 | c.808G= (p.Gly270=) c.484G= (p.Gly162=) c.823G= (p.Gly275=) | |
| X | g.108580560G>T | CA413925714 | COL4A5 | c.808G>T (p.Gly270Ter) c.484G>T (p.Gly162Ter) c.823G>T (p.Gly275Ter) | |
| X | g.108580561G>A | CA413925720 | COL4A5 | c.809G>A (p.Gly270Glu) c.485G>A (p.Gly162Glu) c.824G>A (p.Gly275Glu) | |
| X | g.108580561G>C | CA413925724 | COL4A5 | c.809G>C (p.Gly270Ala) c.485G>C (p.Gly162Ala) c.824G>C (p.Gly275Ala) | |
| X | g.108580561G>T | CA413925729 | COL4A5 | c.809G>T (p.Gly270Val) c.485G>T (p.Gly162Val) c.824G>T (p.Gly275Val) | |
| X | g.108580562A>C | CA517991852 | COL4A5 | c.810A>C (p.Gly270=) c.486A>C (p.Gly162=) c.825A>C (p.Gly275=) | |
| X | g.108580562A>G | CA517991853 | COL4A5 | c.810A>G (p.Gly270=) c.486A>G (p.Gly162=) c.825A>G (p.Gly275=) | |
| X | g.108580562A>T | CA517991854 | COL4A5 | c.810A>T (p.Gly270=) c.486A>T (p.Gly162=) c.825A>T (p.Gly275=) | gnomAD v4 |
| X | g.108580562_108580563delinsAC | CA2450683028 | COL4A5 | c.810_811delinsAC (p.Gly270=) c.486_487delinsAC (p.Gly162=) c.825_826delinsAC (p.Gly275=) | |
| X | g.108580563C>A | CA413925736 | COL4A5 | c.811C>A (p.Pro271Thr) c.487C>A (p.Pro163Thr) c.826C>A (p.Pro276Thr) | |
| X | g.108580563C>G | CA413925740 | COL4A5 | c.811C>G (p.Pro271Ala) c.487C>G (p.Pro163Ala) c.826C>G (p.Pro276Ala) | |
| X | g.108580563C>T | CA413925745 | COL4A5 | c.811C>T (p.Pro271Ser) c.487C>T (p.Pro163Ser) c.826C>T (p.Pro276Ser) | gnomAD v4 |
| X | g.108580564del | CA258331 | COL4A5 | c.812del (p.Pro271LeufsTer?) c.488del (p.Pro163LeufsTer?) c.827del (p.Pro276LeufsTer?) | dbSNP |